PLOD3 variants in ExAC

PLOD3 gene summary
PLOD3 variants in

The table below lists the PLOD3 variants found in the ExAC population database. Click on each variant for more details, including presence in the 1000 Genomes and Exome Sequencing Project databases, a breakdown by ethnic class and the variant's role in inherited cardiac disease. Use the form below to customise the variant selection. The table can be sorted by variant location, variant type or ExAC frequency.




No. Genomic coord.✝ Variant (CDS)▼ Variant (Protein) Variant Type▼ ExAC frequency▼Populations*
1. 100855001 c.1233-4G>A splice site 0.06826800●●●●●●
2. 100850908 c.1886C>T p.T629M missense 0.01313659●●●●●●
3. 100853807 c.1500+6C>T splice site 0.01294388●●●●●●
4. 100853911 c.1402C>G p.R468G missense 0.00952247●●●●●●
5. 100855215 c.1144G>C p.D382H missense 0.00865531●●●●●●
6. 100853379 c.1678G>C p.E560Q missense 0.00434736●●●●●●
7. 100860543 c.13G>A p.G5R missense 0.00164319●●●●●●
8. 100853698 c.1528C>T p.H510Y missense 0.00149456●●●●●●
9. 100860534 c.22C>A p.P8T missense 0.00115473●●●●●●
10. 100859269 c.535A>G p.I179V missense 0.00107141●●●●●●
11. 100854915 c.1315G>A p.A439T missense 0.00069417●●●●●●
12. 100855568 c.1093G>A p.A365T missense 0.00058717●●●●●●
13. 100856197 c.805G>A p.V269I missense 0.00054273●●●●●●
14. 100850053 c.2061+7C>A splice site 0.00053621●●●●●●
15. 100853847 c.1466C>T p.P489L missense 0.00049600●●●●●●
16. 100854862 c.1358+10G>A splice site 0.00049387●●●●●●
17. 100850890 c.1904C>T p.T635I missense 0.00047967●●●●●●
18. 100855828 c.988C>G p.L330V missense 0.00046498●●●●●●
19. 100855929 c.887C>G p.P296R missense 0.00045515●●●●●●
20. 100859694 c.335A>G p.D112G missense 0.00043658●●●●●●
21. 100855624 c.1037C>T p.S346F missense 0.00038856●●●●●●
22. 100852166 c.1756C>G p.H586D missense 0.00034612●●●●●●
23. 100850855 c.1935+4C>T splice site 0.00032446●●●●●●
24. 100859543 c.403C>T p.R135C missense 0.00032390●●●●●●
25. 100856462 c.703C>T p.R235W missense 0.00032073●●●●●●
26. 100853612 c.1614C>T p.V538V splice site 0.00030116●●●●●●
27. 100856190 c.812A>G p.N271S missense 0.00027521●●●●●●
28. 100853662 c.1564G>A p.D522N missense 0.00025143●●●●●●
29. 100860518 c.38T>G p.L13R missense 0.00024166●●●●●●
30. 100859293 c.511G>A p.G171S missense 0.00023075●●●●●●
31. 100856425 c.740C>T p.T247M missense 0.00022591●●●●●●
32. 100859721 c.308G>A p.R103Q missense 0.00022241●●●●●●
33. 100850128 c.1993C>T p.R665W missense 0.00021348●●●●●●
34. 100855804 c.1005+7_1005+8insAGGAG splice site 0.00019952●●●●●●
35. 100859494 c.452C>T p.A151V missense 0.00019949●●●●●●
36. 100855929 c.887C>A p.P296H missense 0.00019386●●●●●●
37. 100853806 c.1500+7G>A splice site 0.00018221●●●●●●
38. 100850894 c.1900A>G p.M634V missense 0.00018189●●●●●●
39. 100859233 c.571G>A p.D191N missense 0.00016501●●●●●●
40. 100854875 c.1355G>A p.R452Q missense 0.00016035●●●●●●
41. 100853865 c.1448C>T p.S483L missense 0.00015693●●●●●●
42. 100855576 c.1085C>T p.P362L missense 0.00014886●●●●●●
43. 100853805 c.1500+8C>T splice site 0.00014081●●●●●●
44. 100853405 c.1652G>A p.R551Q missense 0.00014052●●●●●●
45. 100850190 c.1936-5C>G splice site 0.00013534●●●●●●
46. 100853388 c.1669G>A p.G557R missense 0.00013342●●●●●●
47. 100850116 c.2005G>A p.D669N missense 0.00013129●●●●●●
48. 100854911 c.1319G>A p.R440H missense 0.00012688●●●●●●
49. 100849695 c.2084G>A p.R695H missense 0.00012321●●●●●●
50. 100855148 c.1211G>A p.R404H missense 0.00012290●●●●●●
51. 100854987 c.1243G>A p.A415T missense 0.00012051●●●●●●
52. 100854971 c.1259G>A p.R420H missense 0.00011852●●●●●●
53. 100856214 c.788A>G p.N263S missense 0.00011764●●●●●●
54. 100855834 c.982G>C p.V328L missense 0.00011627●●●●●●
55. 100850136 c.1985C>A p.P662Q missense 0.00011145●●●●●●
56. 100855179 c.1180G>A p.D394N missense 0.00010855●●●●●●
57. 100856438 c.727G>A p.V243M missense 0.00010043●●●●●●
58. 100855631 c.1030G>A p.A344T missense 0.00009923●●●●●●
59. 100855220 c.1139G>A p.R380Q missense 0.00009922●●●●●●
60. 100859462 c.484C>T p.R162C missense 0.00009106●●●●●●
61. 100850911 c.1883G>A p.R628Q missense 0.00007434●●●●●●
62. 100850127 c.1994G>A p.R665Q missense 0.00006990●●●●●●
63. 100856381 c.777+7C>T splice site 0.00006847●●●●●●
64. 100855929 c.887C>T p.P296L missense 0.00006743●●●●●●
65. 100856416 c.749T>C p.I250T missense 0.00006698●●●●●●
66. 100856417 c.748A>G p.I250V missense 0.00006697●●●●●●
67. 100855840 c.976G>A p.D326N missense 0.00006652●●●●●●
68. 100853923 c.1390G>A p.A464T missense 0.00006608●●●●●●
69. 100858379 c.670G>C p.G224R missense 0.00006589●●●●●●
70. 100854881 c.1349G>A p.R450Q missense 0.00006261●●●●●●
71. 100850092 c.2029G>A p.V677I missense 0.00005937●●●●●●
72. 100856456 c.709C>T p.R237C missense 0.00005890●●●●●●
73. 100850082 c.2039A>T p.N680I missense 0.00005775●●●●●●
74. 100852142 c.1780C>T p.R594W missense 0.00005774●●●●●●
75. 100859722 c.307C>T p.R103W missense 0.00005766●●●●●●
76. 100851013 c.1789-8G>A splice site 0.00005065●●●●●●
77. 100853382 c.1675G>A p.V559M missense 0.00005026●●●●●●
78. 100853700 c.1526A>G p.Q509R missense 0.00005009●●●●●●
79. 100859470 c.476C>T p.T159M missense 0.00004970●●●●●●
80. 100855618 c.1043C>T p.P348L missense 0.00004960●●●●●●
81. 100853919 c.1394A>G p.Y465C missense 0.00004954●●●●●●
82. 100850184 c.1937C>T p.A646V missense 0.00004478●●●●●●
83. 100850182 c.1939C>T p.R647W missense 0.00004471●●●●●●
84. 100850181 c.1940G>A p.R647Q missense 0.00004459●●●●●●
85. 100850161 c.1960G>T p.V654F missense 0.00004231●●●●●●
86. 100855927 c.889C>T p.R297W missense 0.00004227●●●●●●
87. 100856463 c.702T>A p.D234E missense 0.00004224●●●●●●
88. 100856130 c.872G>T p.G291V missense 0.00004221●●●●●●
89. 100850158 c.1963C>T p.R655C missense 0.00004220●●●●●●
90. 100856457 c.708C>G p.N236K missense 0.00004209●●●●●●
91. 100850157 c.1964G>A p.R655H missense 0.00004198●●●●●●
92. 100856443 c.722G>A p.R241Q missense 0.00004190●●●●●●
93. 100856155 c.847A>G p.N283D missense 0.00004183●●●●●●
94. 100850155 c.1966T>C p.Y656H missense 0.00004181●●●●●●
95. 100855890 c.926C>T p.P309L missense 0.00004160●●●●●●
96. 100853820 c.1493G>A p.R498Q missense 0.00004137●●●●●●
97. 100852226 c.1696G>A p.V566M missense 0.00004120●●●●●●
98. 100850143 c.1978G>A p.E660K missense 0.00003895●●●●●●
99. 100853364 c.1683+10C>T splice site 0.00003703●●●●●●
100. 100849696 c.2083C>T p.R695C missense 0.00003582●●●●●●
101. 100853406 c.1651C>T p.R551W missense 0.00003455●●●●●●
102. 100856461 c.704G>A p.R235Q missense 0.00003374●●●●●●
103. 100856455 c.710G>A p.R237H missense 0.00003366●●●●●●
104. 100856450 c.715C>T p.R239C missense 0.00003357●●●●●●
105. 100849656 c.2123C>A p.A708E missense 0.00003351●●●●●●
106. 100853686 c.1540C>T p.R514W missense 0.00003344●●●●●●
107. 100855879 c.937C>T p.R313C missense 0.00003324●●●●●●
108. 100849638 c.2141G>A p.R714H missense 0.00003322●●●●●●
109. 100855823 c.993C>G p.F331L missense 0.00003321●●●●●●
110. 100850884 c.1910G>T p.S637I missense 0.00003310●●●●●●
111. 100855643 c.1018G>C p.E340Q missense 0.00003310●●●●●●
112. 100859452 c.494A>G p.N165S missense 0.00003310●●●●●●
113. 100855624 c.1037C>G p.S346C missense 0.00003307●●●●●●
114. 100859968 c.201+8_201+9insA splice site 0.00003306●●●●●●
115. 100852141 c.1781G>A p.R594Q missense 0.00003300●●●●●●
116. 100859262 c.542G>A p.R181H missense 0.00003297●●●●●●
117. 100858427 c.622C>G p.L208V missense 0.00003295●●●●●●
118. 100859716 c.313G>A p.D105N missense 0.00003295●●●●●●
119. 100859699 c.330T>G p.F110L missense 0.00003295●●●●●●
120. 100858400 c.649C>T p.R217W missense 0.00003295●●●●●●
121. 100853418 c.1639G>A p.E547K missense 0.00003173●●●●●●
122. 100855139 c.1220T>C p.I407T missense 0.00003116●●●●●●
123. 100850106 c.2015C>T p.T672I missense 0.00003074●●●●●●
124. 100850095 c.2026A>T p.N676Y missense 0.00002984●●●●●●
125. 100850079 c.2042A>C p.H681P missense 0.00002878●●●●●●
126. 100850073 c.2048G>T p.G683V missense 0.00002875●●●●●●
127. 100850056 c.2061+4C>T splice site 0.00002868●●●●●●
128. 100853378 c.1679A>G p.E560G missense 0.00002729●●●●●●
129. 100853611 c.1614+1G>A essential splice site 0.00002678●●●●●●
130. 100854939 c.1291G>A p.A431T missense 0.00002675●●●●●●
131. 100854941 c.1289G>T p.G430V missense 0.00002653●●●●●●
132. 100855209 c.1150G>A p.E384K missense 0.00002637●●●●●●
133. 100854965 c.1265G>T p.G422V missense 0.00002637●●●●●●
134. 100856489 c.680-4C>G splice site 0.00002628●●●●●●
135. 100854950 c.1280A>G p.N427S missense 0.00002617●●●●●●
136. 100854968 c.1262A>G p.H421R missense 0.00002614●●●●●●
137. 100849671 c.2108C>T p.P703L missense 0.00002607●●●●●●
138. 100854957 c.1273T>C p.W425R missense 0.00002606●●●●●●
139. 100849704 c.2075G>A p.R692H missense 0.00002559●●●●●●
140. 100855927 c.889C>G p.R297G missense 0.00002536●●●●●●
141. 100856130 c.872G>C p.G291A missense 0.00002533●●●●●●
142. 100856399 c.766G>A p.G256S missense 0.00002527●●●●●●
143. 100856449 c.716G>A p.R239H missense 0.00002517●●●●●●
144. 100856154 c.848A>G p.N283S missense 0.00002510●●●●●●
145. 100855912 c.904G>A p.V302M missense 0.00002508●●●●●●
146. 100849642 c.2137G>A p.G713S missense 0.00002495●●●●●●
147. 100855878 c.938G>A p.R313H missense 0.00002494●●●●●●
148. 100855810 c.1005+1G>A essential splice site 0.00002493●●●●●●
149. 100855659 c.1006-4C>T splice site 0.00002487●●●●●●
150. 100860008 c.169C>T p.R57C missense 0.00002483●●●●●●
151. 100853821 c.1492C>T p.R498X nonsense 0.00002482●●●●●●
152. 100855559 c.1102C>T p.P368S missense 0.00002481●●●●●●
153. 100853896 c.1417C>T p.R473W missense 0.00002476●●●●●●
154. 100850936 c.1858G>A p.E620K missense 0.00002476●●●●●●
155. 100852145 c.1777G>A p.G593S missense 0.00002474●●●●●●
156. 100859600 c.346G>A p.V116M missense 0.00002473●●●●●●
157. 100859263 c.541C>T p.R181C missense 0.00002473●●●●●●
158. 100858382 c.667A>C p.N223H missense 0.00002471●●●●●●
159. 100858440 c.616-7C>T splice site 0.00002471●●●●●●
160. 100859728 c.301G>A p.A101T missense 0.00002471●●●●●●
161. 100853385 c.1672A>G p.I558V missense 0.00002327●●●●●●
162. 100855173 c.1186G>A p.V396I missense 0.00002122●●●●●●
163. 100855143 c.1216_1218delCTC p.Leu406del inframe 0.00002071●●●●●●
164. 100855166 c.1193C>A p.T398N missense 0.00002061●●●●●●
165. 100853641 c.1585G>A p.D529N missense 0.00001691●●●●●●
166. 100856464 c.701A>C p.D234A missense 0.00001690●●●●●●
167. 100856130 c.872G>A p.G291E missense 0.00001688●●●●●●
168. 100856145 c.857G>A p.R286Q missense 0.00001677●●●●●●
169. 100853658 c.1568C>T p.T523M missense 0.00001677●●●●●●
170. 100856444 c.721C>T p.R241W missense 0.00001676●●●●●●
171. 100856146 c.856C>T p.R286W missense 0.00001676●●●●●●
172. 100853664 c.1562A>G p.Y521C missense 0.00001675●●●●●●
173. 100856429 c.736G>A p.D246N missense 0.00001674●●●●●●
174. 100856152 c.850C>G p.Q284E missense 0.00001674●●●●●●
175. 100856151 c.851A>G p.Q284R missense 0.00001674●●●●●●
176. 100853685 c.1541G>A p.R514Q missense 0.00001672●●●●●●
177. 100853683 c.1543C>T p.L515F missense 0.00001672●●●●●●
178. 100855837 c.979A>G p.R327G missense 0.00001662●●●●●●
179. 100859542 c.404G>T p.R135L missense 0.00001662●●●●●●
180. 100859504 c.442T>C p.W148R missense 0.00001662●●●●●●
181. 100859503 c.443G>T p.W148L missense 0.00001661●●●●●●
182. 100855866 c.950G>A p.R317Q missense 0.00001661●●●●●●
183. 100859196 c.608G>C p.G203A missense 0.00001660●●●●●●
184. 100855528 c.1127+6C>T splice site 0.00001657●●●●●●
185. 100849570 c.2209G>A p.D737N missense 0.00001657●●●●●●
186. 100853810 c.1500+3G>T splice site 0.00001656●●●●●●
187. 100855572 c.1089G>T p.E363D missense 0.00001654●●●●●●
188. 100850976 c.1818T>A p.N606K missense 0.00001654●●●●●●
189. 100849608 c.2171C>T p.T724M missense 0.00001653●●●●●●
190. 100859214 c.590G>A p.R197Q missense 0.00001653●●●●●●
191. 100860001 c.176C>T p.A59V missense 0.00001653●●●●●●
192. 100850904 c.1890T>G p.Y630X nonsense 0.00001652●●●●●●
193. 100853911 c.1402C>T p.R468W missense 0.00001652●●●●●●
194. 100850920 c.1874A>G p.Q625R missense 0.00001652●●●●●●
195. 100853910 c.1403G>A p.R468Q missense 0.00001651●●●●●●
196. 100859785 c.244C>T p.R82X nonsense 0.00001650●●●●●●
197. 100859579 c.367A>G p.T123A missense 0.00001650●●●●●●
198. 100859236 c.568G>A p.D190N missense 0.00001650●●●●●●
199. 100859588 c.358G>A p.G120S missense 0.00001650●●●●●●
200. 100852231 c.1691C>T p.P564L missense 0.00001648●●●●●●
201. 100859266 c.538G>A p.V180M missense 0.00001648●●●●●●
202. 100859821 c.208G>A p.G70S missense 0.00001648●●●●●●
203. 100859686 c.338+5C>T splice site 0.00001648●●●●●●
204. 100852232 c.1690C>T p.P564S missense 0.00001648●●●●●●
205. 100859309 c.503-8C>T splice site 0.00001648●●●●●●
206. 100859826 c.203C>T p.T68I missense 0.00001648●●●●●●
207. 100859732 c.297A>C p.K99N missense 0.00001648●●●●●●
208. 100852234 c.1688G>T p.C563F missense 0.00001648●●●●●●
209. 100858381 c.668A>G p.N223S missense 0.00001647●●●●●●
210. 100858439 c.616-6delA splice site 0.00001647●●●●●●
211. 100854868 c.1358+4A>G splice site 0.00001644●●●●●●
212. 100854876 c.1354C>G p.R452G missense 0.00001596●●●●●●
213. 100853451 c.1615-9C>G splice site 0.00001589●●●●●●
214. 100854882 c.1348C>T p.R450W missense 0.00001558●●●●●●
215. 100849713 c.2066G>C p.G689A missense 0.00001483●●●●●●
216. 100855223 c.1136G>C p.C379S missense 0.00001435●●●●●●
217. 100854912 c.1318C>T p.R440C missense 0.00001400●●●●●●
218. 100854915 c.1315G>C p.A439P missense 0.00001388●●●●●●
219. 100854927 c.1303G>A p.D435N missense 0.00001358●●●●●●
220. 100854925 c.1305T>A p.D435E missense 0.00001358●●●●●●
221. 100855003 c.1233-6C>T splice site 0.00001354●●●●●●
222. 100854932 c.1298G>T p.S433I missense 0.00001344●●●●●●
223. 100854987 c.1243G>T p.A415S missense 0.00001339●●●●●●
224. 100854986 c.1244C>A p.A415D missense 0.00001328●●●●●●
225. 100854972 c.1258C>T p.R420C missense 0.00001320●●●●●●
226. 100854975 c.1255T>C p.S419P missense 0.00001319●●●●●●
227. 100854974 c.1256C>T p.S419F missense 0.00001314●●●●●●
228. 100849705 c.2074C>T p.R692C missense 0.00001282●●●●●●
229. 100855203 c.1156G>A p.E386K missense 0.00001242●●●●●●
230. 100855119 c.1232+8A>C splice site 0.00001139●●●●●●
231. 100855182 c.1177G>A p.A393T missense 0.00001100●●●●●●
232. 100855149 c.1210C>T p.R404C missense 0.00001027●●●●●●
233. 100855164 c.1195A>G p.N399D missense 0.00001024●●●●●●
234. 100855163 c.1196A>T p.N399I missense 0.00001023●●●●●●
235. 100849690 c.2089G>A p.D697N missense 0.00001009●●●●●●
236. 100853611 c.1614+1G>T essential splice site 0.00000893●●●●●●
237. 100860056 c.121G>A p.V41M missense 0.00000873●●●●●●
238. 100853617 c.1609C>T p.P537S missense 0.00000870●●●●●●
239. 100853624 c.1602C>G p.F534L missense 0.00000859●●●●●●
240. 100856380 c.777+8C>G splice site 0.00000857●●●●●●
241. 100856115 c.879+8G>A splice site 0.00000853●●●●●●
242. 100856229 c.778-5A>G splice site 0.00000849●●●●●●
243. 100856127 c.875G>A p.G292E missense 0.00000848●●●●●●
244. 100853635 c.1591T>C p.W531R missense 0.00000848●●●●●●
245. 100856392 c.773C>T p.T258I missense 0.00000846●●●●●●
246. 100853641 c.1585G>T p.D529Y missense 0.00000846●●●●●●
247. 100855938 c.880-2A>G essential splice site 0.00000845●●●●●●
248. 100856464 c.701A>G p.D234G missense 0.00000845●●●●●●
249. 100856131 c.871G>A p.G291R missense 0.00000844●●●●●●
250. 100856133 c.869C>T p.P290L missense 0.00000843●●●●●●
251. 100856218 c.784C>G p.L262V missense 0.00000843●●●●●●
252. 100856453 c.712G>T p.V238L missense 0.00000840●●●●●●
253. 100856139 c.863C>T p.T288I missense 0.00000840●●●●●●
254. 100855919 c.897delT p.Leu300TrpfsTer58 frameshift 0.00000840●●●●●●
255. 100860037 c.140C>G p.A47G missense 0.00000839●●●●●●
256. 100856446 c.719T>A p.I240N missense 0.00000838●●●●●●
257. 100853667 c.1559G>C p.R520T missense 0.00000837●●●●●●
258. 100853676 c.1550C>T p.A517V missense 0.00000837●●●●●●
259. 100856425 c.740C>G p.T247R missense 0.00000837●●●●●●
260. 100855912 c.904G>C p.V302L missense 0.00000836●●●●●●
261. 100856201 c.801C>G p.N267K missense 0.00000836●●●●●●
262. 100856170 c.832G>C p.G278R missense 0.00000835●●●●●●
263. 100855907 c.909T>A p.F303L missense 0.00000835●●●●●●
264. 100856183 c.819G>A p.W273X nonsense 0.00000834●●●●●●
265. 100856176 c.826G>C p.E276Q missense 0.00000834●●●●●●
266. 100856184 c.818G>A p.W273X nonsense 0.00000834●●●●●●
267. 100856178 c.824C>A p.P275H missense 0.00000834●●●●●●
268. 100853729 c.1501-4A>G splice site 0.00000834●●●●●●
269. 100850854 c.1935+5G>A splice site 0.00000833●●●●●●
270. 100855898 c.918G>C p.Q306H missense 0.00000833●●●●●●
271. 100849648 c.2131C>T p.H711Y missense 0.00000833●●●●●●
272. 100859189 c.615G>A splice site 0.00000833●●●●●●
273. 100855894 c.922A>G p.T308A missense 0.00000832●●●●●●
274. 100859190 c.614G>C p.R205T missense 0.00000832●●●●●●
275. 100855891 c.925C>G p.P309A missense 0.00000832●●●●●●
276. 100850997 c.1797G>C p.R599S missense 0.00000831●●●●●●
277. 100855811 c.1005C>T splice site 0.00000831●●●●●●
278. 100855810 c.1005+1G>T essential splice site 0.00000831●●●●●●
279. 100855855 c.961C>A p.L321M missense 0.00000831●●●●●●
280. 100855837 c.979A>T p.R327W missense 0.00000831●●●●●●
281. 100855841 c.975delC p.Asp326ThrfsTer32 frameshift 0.00000831●●●●●●
282. 100860024 c.153delG p.Tyr52ThrfsTer42 frameshift 0.00000831●●●●●●
283. 100859491 c.455A>G p.E152G missense 0.00000831●●●●●●
284. 100855804 c.1005+7C>G splice site 0.00000831●●●●●●
285. 100859531 c.415T>C p.S139P missense 0.00000830●●●●●●
286. 100855848 c.968A>G p.Y323C missense 0.00000830●●●●●●
287. 100855824 c.992T>C p.F331S missense 0.00000830●●●●●●
288. 100855664 c.1006-9C>A splice site 0.00000830●●●●●●
289. 100859489 c.457C>G p.Q153E missense 0.00000830●●●●●●
290. 100855828 c.988C>T p.L330F missense 0.00000830●●●●●●
291. 100855819 c.997C>G p.H333D missense 0.00000830●●●●●●
292. 100859522 c.424A>G p.S142G missense 0.00000830●●●●●●
293. 100855842 c.974C>G p.P325R missense 0.00000830●●●●●●
294. 100855830 c.986C>T p.T329I missense 0.00000830●●●●●●
295. 100849629 c.2150A>G p.H717R missense 0.00000829●●●●●●
296. 100860019 c.158T>A p.L53Q missense 0.00000829●●●●●●
297. 100855662 c.1006-7C>G splice site 0.00000829●●●●●●
298. 100855527 c.1127+7G>A splice site 0.00000828●●●●●●
299. 100859453 c.493A>C p.N165H missense 0.00000828●●●●●●
300. 100853958 c.1359-4C>T splice site 0.00000828●●●●●●
301. 100855541 c.1120A>C p.M374L missense 0.00000828●●●●●●
302. 100859474 c.472G>C p.G158R missense 0.00000828●●●●●●
303. 100855534 c.1127T>C p.M376T missense 0.00000828●●●●●●
304. 100859461 c.485G>C p.R162P missense 0.00000828●●●●●●
305. 100853955 c.1359-1G>T essential splice site 0.00000828●●●●●●
306. 100850884 c.1910G>C p.S637T missense 0.00000828●●●●●●
307. 100855536 c.1125C>T splice site 0.00000828●●●●●●
308. 100855537 c.1124C>T p.A375V missense 0.00000828●●●●●●
309. 100853957 c.1359-3C>T splice site 0.00000828●●●●●●
310. 100855541 c.1120A>G p.M374V missense 0.00000828●●●●●●
311. 100850876 c.1918C>G p.P640A missense 0.00000828●●●●●●
312. 100855616 c.1045C>T p.Q349X nonsense 0.00000827●●●●●●
313. 100853838 c.1475C>T p.A492V missense 0.00000827●●●●●●
314. 100859211 c.593T>C p.L198P missense 0.00000827●●●●●●
315. 100855583 c.1078G>C p.V360L missense 0.00000827●●●●●●
316. 100855642 c.1019A>C p.E340A missense 0.00000827●●●●●●
317. 100849606 c.2173A>G p.T725A missense 0.00000827●●●●●●
318. 100855589 c.1072A>G p.K358E missense 0.00000827●●●●●●
319. 100849576 c.2203T>C p.F735L missense 0.00000827●●●●●●
320. 100855549 c.1112C>T p.A371V missense 0.00000827●●●●●●
321. 100849609 c.2170A>G p.T724A missense 0.00000827●●●●●●
322. 100853945 c.1368G>T p.W456C missense 0.00000827●●●●●●
323. 100853817 c.1496A>G p.D499G missense 0.00000827●●●●●●
324. 100855609 c.1052A>G p.Q351R missense 0.00000827●●●●●●
325. 100859551 c.395G>A p.S132N missense 0.00000827●●●●●●
326. 100849588 c.2191A>G p.I731V missense 0.00000827●●●●●●
327. 100855553 c.1108G>A p.E370K missense 0.00000827●●●●●●
328. 100849617 c.2162G>A p.G721E missense 0.00000827●●●●●●
329. 100853833 c.1480T>C p.C494R missense 0.00000827●●●●●●
330. 100859450 c.496T>G p.S166A missense 0.00000827●●●●●●
331. 100850888 c.1906G>A p.E636K missense 0.00000827●●●●●●
332. 100855625 c.1036T>A p.S346T missense 0.00000827●●●●●●
333. 100849594 c.2185C>T p.R729C missense 0.00000827●●●●●●
334. 100849616 c.2163delG p.Leu722CysfsTer33 frameshift 0.00000827●●●●●●
335. 100850906 c.1888T>C p.Y630H missense 0.00000826●●●●●●
336. 100859969 c.201+7A>G splice site 0.00000826●●●●●●
337. 100850966 c.1828G>A p.V610M missense 0.00000826●●●●●●
338. 100859986 c.191A>G p.Y64C missense 0.00000826●●●●●●
339. 100850905 c.1889A>C p.Y630S missense 0.00000826●●●●●●
340. 100853853 c.1460C>T p.T487I missense 0.00000826●●●●●●
341. 100850960 c.1834A>T p.I612F missense 0.00000826●●●●●●
342. 100859988 c.189C>G p.N63K missense 0.00000826●●●●●●
343. 100853880 c.1433A>G p.Q478R missense 0.00000826●●●●●●
344. 100850905 c.1889A>T p.Y630F missense 0.00000826●●●●●●
345. 100850900 c.1894G>A p.G632S missense 0.00000826●●●●●●
346. 100859215 c.589C>T p.R197W missense 0.00000826●●●●●●
347. 100859978 c.199C>T p.R67W missense 0.00000826●●●●●●
348. 100853866 c.1447T>G p.S483A missense 0.00000826●●●●●●
349. 100852127 c.1788+7G>T splice site 0.00000826●●●●●●
350. 100859559 c.387C>G p.F129L missense 0.00000826●●●●●●
351. 100853919 c.1394A>T p.Y465F missense 0.00000826●●●●●●
352. 100859968 c.201+8G>A splice site 0.00000826●●●●●●
353. 100853881 c.1432C>G p.Q478E missense 0.00000826●●●●●●
354. 100852144 c.1778G>A p.G593D missense 0.00000825●●●●●●
355. 100850930 c.1864C>T p.Q622X nonsense 0.00000825●●●●●●
356. 100853889 c.1424A>C p.E475A missense 0.00000825●●●●●●
357. 100859582 c.364C>G p.P122A missense 0.00000825●●●●●●
358. 100859796 c.233delG p.Gly78ValfsTer16 frameshift 0.00000825●●●●●●
359. 100852139 c.1783C>T p.H595Y missense 0.00000825●●●●●●
360. 100853895 c.1418G>A p.R473Q missense 0.00000825●●●●●●
361. 100850928 c.1866G>C p.Q622H missense 0.00000825●●●●●●
362. 100850929 c.1865A>G p.Q622R missense 0.00000825●●●●●●
363. 100859296 c.508A>G p.I170V missense 0.00000824●●●●●●
364. 100859830 c.202-3C>T splice site 0.00000824●●●●●●
365. 100859685 c.338+6G>C splice site 0.00000824●●●●●●
366. 100859258 c.546G>C p.Q182H missense 0.00000824●●●●●●
367. 100859730 c.299A>C p.Y100S missense 0.00000824●●●●●●
368. 100859601 c.345C>G p.D115E missense 0.00000824●●●●●●
369. 100859750 c.279_281delAAA p.Lys95del inframe 0.00000824●●●●●●
370. 100859304 c.503-3C>G splice site 0.00000824●●●●●●
371. 100858439 c.616-6A>G splice site 0.00000824●●●●●●
372. 100858430 c.619A>T p.K207X nonsense 0.00000824●●●●●●
373. 100859769 c.260G>A p.G87E missense 0.00000824●●●●●●
374. 100859280 c.524C>G p.T175S missense 0.00000824●●●●●●
375. 100852236 c.1686A>G splice site 0.00000824●●●●●●
376. 100852152 c.1770G>A p.W590X nonsense 0.00000824●●●●●●
377. 100859833 c.202-6C>T splice site 0.00000824●●●●●●
378. 100859799 c.230G>T p.G77V missense 0.00000824●●●●●●
379. 100858408 c.641A>T p.H214L missense 0.00000824●●●●●●
380. 100859603 c.343G>A p.D115N missense 0.00000824●●●●●●
381. 100859284 c.520A>G p.T174A missense 0.00000824●●●●●●
382. 100852238 c.1684C>T p.P562S missense 0.00000824●●●●●●
383. 100859301 c.503G>T p.G168V missense 0.00000824●●●●●●
384. 100859724 c.305A>T p.D102V missense 0.00000824●●●●●●
385. 100858426 c.623_624delTC p.Leu208GlnfsTer3 frameshift 0.00000824●●●●●●
386. 100859832 c.202-5dupC splice site 0.00000824●●●●●●
387. 100859262 c.542G>C p.R181P missense 0.00000824●●●●●●
388. 100859802 c.227G>A p.R76Q missense 0.00000824●●●●●●
389. 100858426 c.623T>G p.L208R missense 0.00000824●●●●●●
390. 100859606 c.340T>G p.Y114D missense 0.00000824●●●●●●
391. 100859296 c.508A>C p.I170L missense 0.00000824●●●●●●
392. 100859684 c.338+7G>C splice site 0.00000824●●●●●●
393. 100859762 c.267G>C p.K89N missense 0.00000824●●●●●●
394. 100852229 c.1693G>A p.D565N missense 0.00000824●●●●●●
395. 100858434 c.616-1G>A essential splice site 0.00000824●●●●●●
396. 100859702 c.327G>A p.M109I missense 0.00000824●●●●●●
397. 100859836 c.202-9_202-7delTCT splice site 0.00000824●●●●●●
398. 100859805 c.224G>A p.W75X nonsense 0.00000824●●●●●●
399. 100859731 c.298T>C p.Y100H missense 0.00000824●●●●●●
400. 100859686 c.338+5C>G splice site 0.00000824●●●●●●

* This highlights the relative frequency of the variant in the ExAC populations - Non-Finnish European, African, East Asian, South Asian, American and Finnish. Higher frequencies are denoted by darker shades of green, variants absent in a population are coloured light gray.

✝ Genomic coordinates refer to the GRCh37 release of the human genome.